720852000: Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome

\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypertrichosis\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Cervical hypertrichosis and peripheral neuropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypertrichosis\Cervical hypertrichosis and peripheral neuropathy syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322285011 Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322286012 Cervical hypertrichosis and peripheral neuropathy syndrome en Synonym Active Case insensitive SNOMED CT core

3322289017 A rare syndrome with the association of congenital hypertrichosis in the anterior cervical region, peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cervical hypertrichosis and peripheral neuropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cervical hypertrichosis and peripheral neuropathy syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	2
Cervical hypertrichosis and peripheral neuropathy syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Cervical hypertrichosis and peripheral neuropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cervical hypertrichosis and peripheral neuropathy syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Cervical hypertrichosis and peripheral neuropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cervical hypertrichosis and peripheral neuropathy syndrome	Associated morphology	Growth alteration	false	Inferred relationship	Some	3
Cervical hypertrichosis and peripheral neuropathy syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Some	1
Cervical hypertrichosis and peripheral neuropathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Is a	Congenital hypertrichosis	true	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Is a	Hereditary peripheral neuropathy	true	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Cervical hypertrichosis and peripheral neuropathy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Cervical hypertrichosis and peripheral neuropathy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Cervical hypertrichosis and peripheral neuropathy syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3

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
3322285011	Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322286012	Cervical hypertrichosis and peripheral neuropathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322289017	A rare syndrome with the association of congenital hypertrichosis in the anterior cervical region, peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core