723500009: Autosomal recessive aplasia cutis congenita of limb (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of soft tissue of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\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\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of limb (disorder)\Disorder of soft tissue of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Aplasia of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Aplasia cutis congenita (disorder)	false	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Autosomal recessive aplasia cutis congenita of limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive aplasia cutis congenita of limb (disorder)	Finding site	Skin of part of limb (body structure)	false	Inferred relationship	Some	2
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Partial congenital absence of limb	false	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive aplasia cutis congenita of limb (disorder)	Finding site	Skin of part of limb (body structure)	true	Inferred relationship	Some	1
Autosomal recessive aplasia cutis congenita of limb (disorder)	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Autosomal recessive aplasia cutis congenita of limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Aplasia cutis congenita of limb (disorder)	true	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive aplasia cutis congenita of limb (disorder)	Finding site	Skin part	true	Inferred relationship	Some	2
Autosomal recessive aplasia cutis congenita of limb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive aplasia cutis congenita of limb (disorder)	Associated morphology	Aplasia	true	Inferred relationship	Some	2

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
3424848013	Autosomal recessive aplasia cutis congenita of limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424849017	Autosomal recessive aplasia cutis congenita of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424851018	Recessive aplasia cutis congenita of limbs	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5816761000241119	aplasie cutanée congénitale d'un membre autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816771000241110	aplasie congénitale autosomique récessive de la peau d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module