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725589005: Bullous dystrophy macular type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3444136017 Bullous dystrophy macular type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444137014 Bullous dystrophy macular type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403490014 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403491013 A rare X-linked syndromic intellectual disability characterised by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3444136017 Bullous dystrophy macular type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444137014 Bullous dystrophy macular type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3444138016 A genetic disorder with characteristics of formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403490014 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403491013 A rare X-linked syndromic intellectual disability characterised by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3443201001000117 Dystrophie, bullöse, hereditäre, makulärer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5796881000241117 dystrophie bulleuse de type maculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5796881000241117 dystrophie bulleuse de type maculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443201001000117 Dystrophie, bullöse, hereditäre, makulärer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bullous dystrophy macular type Is a Bullous dermatosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Associated morphology Blister (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bullous dystrophy macular type Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bullous dystrophy macular type Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Bullous dystrophy macular type Is a Blister of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Bullous dystrophy macular type Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Bullous dystrophy macular type Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Bullous dystrophy macular type Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Bullous dystrophy macular type Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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