56797000: Congenital hypertrichosis (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis

\Congenital anomaly of hair\Congenital hypertrichosis

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis

\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

94458019 Congenital hypertrichosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
94459010 Hypertrichosis universalis en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
795348018 Congenital hypertrichosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
998141000241110 hypertrichose congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypertrichosis	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Congenital hypertrichosis	Is a	Malformation or hamartoma of pilosebaceous apparatus	false	Inferred relationship	Some
Congenital hypertrichosis	Is a	Hypertrichosis	true	Inferred relationship	Some
Congenital hypertrichosis	Finding site	Hair structure	false	Inferred relationship	Some
Congenital hypertrichosis	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hypertrichosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital hypertrichosis	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Congenital hypertrichosis	Finding site	Structure of skin region	false	Inferred relationship	Some
Congenital hypertrichosis	Finding site	Skin structure	false	Inferred relationship	Some
Congenital hypertrichosis	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Congenital hypertrichosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital hypertrichosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hypertrichosis	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital hypertrichosis	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Congenital hypertrichosis	Associated morphology	Growth alteration	true	Inferred relationship	Some	1
Congenital hypertrichosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital hypertrichosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Congenital hypertrichosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hypertrichosis	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypertrichosis with congenital macrogingivae (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Congenital hypertrichosis lanuginosa (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
syndrome d'hypertrichose-faciès acromégaloïde	Is a	False	Congenital hypertrichosis	Inferred relationship	Some
Isolated anterior cervical hypertrichosis (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Wiedemann Steiner syndrome	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Hypertrichosis cubiti (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Barber-Say syndrome (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Congenital generalized hypertrichosis (disorder)	Is a	True	Congenital hypertrichosis	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
94458019	Congenital hypertrichosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
94459010	Hypertrichosis universalis	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
795348018	Congenital hypertrichosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
998141000241110	hypertrichose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module