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\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb\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\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb\Autosomal recessive aplasia cutis congenita of limb (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis congenita of limb\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:

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
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
3424852013	An extremely rare variant of aplasia cutis congenita with characteristics of congenital absence of skin on the upper and/or lower limbs. These lesions usually heal spontaneously resulting in a hypotrichotic scar. May be associated with junctional epidermolysis bullosa. There have been no further descriptions in the literature since 1980.	en	Definition	Active	Entire term case sensitive (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
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

Expanded Value Set

This concept is not in any reference sets

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