Autosomal recessive hereditary disorder
Congenital anomaly of nail
Congenital anomaly of skeletal bone
Congenital hypotrichia
Developmental hereditary disorder
Genetic disorder of nail
Hereditary disorder of musculoskeletal system
Hereditary disorder of the integument
Multiple malformation syndrome with facial defects as major feature
Short stature disorder
Skeletal dysplasia
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Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
SOFT 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.
syndroom van kleine gestalte, onychodysplasie, faciale dysmorfie en hypotrichose
SOFT-syndroom
Id773625007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteNail unit structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHeight / growth measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified