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719910004: Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3318421011 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3318429013 Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3318430015 Tricho-retino-dento-digital syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3318431016 Bork 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
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier 3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier 1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier 3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Finding site Hair structure true Inferred relationship Existential restriction modifier 2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a Hereditary disorder of tooth 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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