239037001: Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome

\Integumentary system finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Disorder of integument\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\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\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Ectodermal dysplasia with hair-nail defect\Curly hair, ankyloblepharon, nail dysplasia syndrome

Status: current, Not 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
Curly hair, ankyloblepharon, nail dysplasia syndrome	Is a	Ectodermal dysplasia with hair-nail defect	true	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	5
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	nagel, struktur	false	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	4
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	4
Curly hair, ankyloblepharon, nail dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	3
Curly hair, ankyloblepharon, nail dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Curly hair, ankyloblepharon, nail dysplasia syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	2
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358221017	CHANDS - Curly hair, ankyloblepharon, nail dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
358222012	Curly hair, ankyloblepharon, nail dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627999013	Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1857101000052114	syndrom med lockigt hår, ankyloblefaron och nageldysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)