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 (disorder)\Hypertrichosis\Congenital hypertrichosis (disorder)

\Congenital anomaly of hair\Congenital hypertrichosis (disorder)

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

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

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

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypertrichosis (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypertrichosis (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypertrichosis (disorder)
\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 (disorder)\Hypertrichosis\Congenital hypertrichosis (disorder)
\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 (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypertrichosis (disorder)
\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 (disorder)\Hypertrichosis\Congenital hypertrichosis (disorder)
\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 (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypertrichosis (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of hair\Congenital hypertrichosis (disorder)

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypertrichosis with congenital macrogingivae (disorder)	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypertrichosis lanuginosa (disorder)	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndrom des akromegaloiden Gesichtes mit Hypertrichose	Is a	False	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cataract-hypertrichosis-intellectual disability syndrome is characterised by congenital cataract, generalised hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Wiedemann Steiner syndrome (disorder)	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertrichosis cubiti (disorder)	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Barber-Say syndrome	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital generalized hypertrichosis (disorder)	Is a	True	Congenital hypertrichosis (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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