|syndroom van kleine gestalte, onychodysplasie, faciale dysmorfie en hypotrichose (aandoening)|
syndroom van kleine gestalte, onychodysplasie, faciale dysmorfie en hypotrichose
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome
A rare genetic primary bone dysplasia disorder with characteristics of severe pre and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears) early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly as well as a high-pitched voice are also associated. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21.
|referentieset met complexe 'mapping' naar ICD-10|
|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|