724350009: Hereditary hypotrichosis with recurrent skin vesicles syndrome (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\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles 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\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary hypotrichosis with recurrent skin vesicles 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\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary hypotrichosis with recurrent skin vesicles 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\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles 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\Hypotrichosis\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles 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 hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary hypotrichosis with recurrent skin vesicles syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia\Hereditary hypotrichosis with recurrent skin vesicles syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3434316014 Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3434317017 Hereditary hypotrichosis with recurrent skin vesicles syndrome en Synonym Active Case insensitive SNOMED CT core

3434318010 Hypotrichosis and recurrent skin vesicles en Synonym Active Case insensitive SNOMED CT core

3434319019 A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Is a	Congenital hypotrichia	true	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Is a	Skin lesion	true	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Associated morphology	Lesion	true	Inferred relationship	Some	2
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Hereditary hypotrichosis with recurrent skin vesicles 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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3434316014	Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3434317017	Hereditary hypotrichosis with recurrent skin vesicles syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3434318010	Hypotrichosis and recurrent skin vesicles	en	Synonym	Active	Case insensitive	SNOMED CT core
3434319019	A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12.	en	Definition	Active	Case sensitive	SNOMED CT core