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773625007: Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3724864012 SOFT syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3724865013 Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3724866014 Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3724867017 SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Congenital anomaly of nail true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site Hair structure true Inferred relationship Existential restriction modifier 4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 3
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Congenital hypotrichia true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 4
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Finding site Nail unit structure true Inferred relationship Existential restriction modifier 2
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Disorder of nail false Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Genetic disorder of nail true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 5
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a Skin lesion true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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