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\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\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\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\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\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 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

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	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
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	Inferred relationship	Some
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	Inferred relationship	Some
syndrome d'hypertrichose-faciès acromégaloïde	Is a	False	Congenital hypertrichosis	Inferred relationship	Some
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized 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	Inferred relationship	Some
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.	Is a	True	Congenital hypertrichosis	Inferred relationship	Some
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	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

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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
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