205573006: Focal dermal hypoplasia (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Focal dermal hypoplasia

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Focal dermal hypoplasia
\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\Focal dermal hypoplasia

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Focal dermal hypoplasia
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Focal dermal hypoplasia
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Focal dermal hypoplasia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Focal dermal hypoplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Focal dermal hypoplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Focal dermal hypoplasia
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Focal dermal hypoplasia
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Focal dermal hypoplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Focal dermal hypoplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Focal dermal hypoplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Focal dermal hypoplasia
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Focal dermal hypoplasia
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Focal dermal hypoplasia
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Focal dermal hypoplasia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Focal dermal hypoplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Focal dermal hypoplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Focal dermal hypoplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Focal dermal hypoplasia

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
Focal dermal hypoplasia	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Focal dermal hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some
Focal dermal hypoplasia	Finding site	Structure of skin region	false	Inferred relationship	Some
Focal dermal hypoplasia	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Focal dermal hypoplasia	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Focal dermal hypoplasia	Finding site	Skin structure	false	Inferred relationship	Some	1
Focal dermal hypoplasia	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Focal dermal hypoplasia	Finding site	Skin structure	true	Inferred relationship	Some	1
Focal dermal hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Focal dermal hypoplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Focal dermal hypoplasia	Finding site	Skin structure	false	Inferred relationship	Some	2
Focal dermal hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Focal dermal hypoplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Focal dermal hypoplasia	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Focal dermal hypoplasia	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Focal dermal hypoplasia	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Focal dermal hypoplasia	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Focal dermal hypoplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Focal dermal hypoplasia	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some

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
315257012	Focal dermal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
315258019	FDH - Focal dermal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
315259010	FODH - Focal dermal hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
590960012	Focal dermal hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3781377015	Goltz-Gorlin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3781378013	Goltz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core