Auditory system hereditary disorder
Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Congenital anomaly of skeletal bone
Congenital anomaly of subcutaneous tissue
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy
Connective tissue hereditary disorder
Developmental hereditary disorder
Disorder with defective osteoid mineralization
Disorder with defective osteoid mineralization
Genetic lipodystrophy
Genetic lipodystrophy
Hearing loss associated with syndrome
Hearing loss associated with syndrome
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Hereditary disorder of the integument
Hereditary metabolic disease
Intellectual disability
Multiple system malformation syndrome
Multiple system malformation syndrome
Musculoskeletal and connective tissue disorder
Sensorineural hearing loss
Skeletal dysplasia
Skeletal dysplasia
|||||||||||||||||||||||||||
Lipodystrophy, intellectual disability, deafness syndrome (disorder)
Lipodystrophy, intellectual disability, deafness syndrome
Rajab Spranger syndrome
An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
syndroom van lipodystrofie, verstandelijke beperking en doofheid
syndroom van lipodystrofie, verstandelijke handicap en doofheid
syndroom van Rajab-Spranger
syndroom van lipodystrofie, mentale retardatie en doofheid
Id721973006
StatusPrimitive
Finding siteOsteoid tissue
Finding siteOsteoid tissue
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteSubcutaneous fatty tissue
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationImpaired
InterpretsHearing
Finding siteStructure of auditory system
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE88.1
RuleTRUE
AdviceALWAYS E88.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified