Acromesomelic dysplasia syndrome	Autosomal recessive hereditary disorder	Brachydactyly of hand	Congenital hypoplasia of part of upper limb	Developmental hereditary disorder	Finding of bone in hand	Finding of musculoskeletal structure of digit of hand	Global developmental delay	Hereditary disorder of musculoskeletal system	Intellectual disability	Multiple malformation syndrome with limb defect as major feature	Short stature disorder
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Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)
	Short stature, brachydactyly, obesity, global developmental delay syndrome
	SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures
	A rare genetic multiple congenital anomalies syndrome with characteristics of short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability and more variably; seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion and short neck. The malformation is due to a loss of function in the enzyme protein arginine N-methyltransferase 7 (encoded by PRMT7, 16q22.1) resulting in decreased levels of protein arginine methylation. Transmission is autosomal recessive.
	syndroom van kleine gestalte, brachydactylie, obesitas en algehele ontwikkelingsachterstand

Id	1187277001
Status	Primitive

Has interpretation	Below reference range
Interprets	Body height measure

Associated morphology	Abnormally short growth
Finding site	Entire digit of hand
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Hypoplasia
Finding site	Bone structure of distal phalanx of hand
Occurrence	Congenital
Pathological process	Pathological developmental process

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified