Autosomal recessive hereditary disorder	Carbohydrate-deficient glycoprotein syndrome	Congenital anomaly of skeletal bone	Congenital neurological disorder	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Inherited metabolic disorder of nervous system	Intellectual disability	Metabolic bone disease	Multiple malformation syndrome with facial defects as major feature	Seizure disorder	Skeletal dysplasia
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Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)
	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
	MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3 Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency Congenital disorder of glycosylation due to PIGT deficiency
	A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
	syndroom van verstandelijke beperking, epileptische aanvallen, hypotonie en afwijkingen van oog en skelet
	syndroom van mentale retardatie, convulsies, hypotonie en afwijkingen van oog en skelet syndroom van verstandelijke beperking, insulten, hypotonie en afwijkingen van oog en skelet MCAHS type 3 syndroom van verstandelijke handicap, convulsies, hypotonie en afwijkingen van oog en skelet congenitaal defect in glycosylering door PIGT-deficiëntie

Id	770755007
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified