725589005: Bullous dystrophy macular type (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Bullous dystrophy macular type

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

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3444137014 Bullous dystrophy macular type en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3444136017	Bullous dystrophy macular type (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3444137014	Bullous dystrophy macular type	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core