56558005: Congenital hypotrichia (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hair finding\Disorder of hair\...

\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia

\Congenital anomaly of hair\Congenital hypotrichia

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia
\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
\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
\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

\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
\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
\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
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair growth\Hypotrichosis\Congenital hypotrichia
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital hypotrichia
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia

\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
\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
\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
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia
\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
\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
\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
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital hypotrichia

Status: current, Defined. Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1231616018 Congenital hypotrichosis en Synonym Active Case insensitive SNOMED CT core

795083011 Congenital hypotrichia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

94061013 Congenital hypotrichia en Synonym Active Case insensitive SNOMED CT core

94062018 Hypotrichosis congenita en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypotrichia	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypotrichia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hypotrichia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital hypotrichia	Is a	Skin lesion	false	Inferred relationship	Some
Congenital hypotrichia	Finding site	Hair structure	false	Inferred relationship	Some	1
Congenital hypotrichia	Is a	Congenital anomaly	false	Inferred relationship	Some
Congenital hypotrichia	Finding site	Skin structure	false	Inferred relationship	Some
Congenital hypotrichia	Is a	Hypotrichosis	true	Inferred relationship	Some
Congenital hypotrichia	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Congenital hypotrichia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1
Congenital hypotrichia	Finding site	Hair structure	true	Inferred relationship	Some	1
Congenital hypotrichia	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hypotrichia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Congenital hypotrichia	Finding site	Hair structure	false	Inferred relationship	Some	2
Congenital hypotrichia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	3
Congenital hypotrichia	Finding site	Hair structure	false	Inferred relationship	Some	3
Congenital hypotrichia	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital hypotrichia	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hypotrichia	Finding site	Hair structure	false	Inferred relationship	Some	1
Congenital hypotrichia	Associated morphology	Congenital hypoplasia	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Marie Unna syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Hypotrichosis and intellectual disability syndrome Lopes type	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Congenital ichthyosis with hypotrichosis syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some
Hypotrichosis with keratosis pilaris and lentiginosis	Is a	False	Congenital hypotrichia	Inferred relationship	Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	Is a	True	Congenital hypotrichia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
1231616018	Congenital hypotrichosis	en	Synonym	Active	Case insensitive	SNOMED CT core
795083011	Congenital hypotrichia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
94061013	Congenital hypotrichia	en	Synonym	Active	Case insensitive	SNOMED CT core
94062018	Hypotrichosis congenita	en	Synonym	Active	Case insensitive	SNOMED CT core