725589005: Bullous dystrophy macular type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Blister\Blister of skin\Bullous dystrophy macular type (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Bullous dystrophy macular type (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue injury\Blister of skin\Bullous dystrophy macular type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Bullous dystrophy macular type (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Bullous dystrophy macular type (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Bullous dystrophy macular type (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Bullous dystrophy macular type (disorder)
\Integumentary system finding\Disorder of integument\Injury of integument\Blister of skin\Bullous dystrophy macular type (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Bullous dystrophy macular type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Bullous dystrophy macular type (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Bullous dystrophy macular type (disorder)
\Disease\Traumatic or non-traumatic injury (disorder)\Blister\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Traumatic or non-traumatic injury (disorder)\Soft tissue injury\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of integument\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Bullous dystrophy macular type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Blister\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Bullous dystrophy macular type (disorder)
\Disease\Disorder of body system\Disorder of integument\Injury of integument\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of soft tissue\Soft tissue injury\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Blister of skin\Bullous dystrophy macular type (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Bullous dystrophy macular type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\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

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

10036601000172116 dystrophie bulleuse de type maculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5260371000172114 hereditaire bulleuze dystrofie van maculatype nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5260381000172112 erfelijke bulleuze dystrofie van maculatype nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
10036601000172116	dystrophie bulleuse de type maculaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5260371000172114	hereditaire bulleuze dystrofie van maculatype	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5260381000172112	erfelijke bulleuze dystrofie van maculatype	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)