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

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs

\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs

\General finding of soft tissue\Skin finding\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Recessive aplasia cutis congenita of limbs
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\Integumentary system finding\Skin finding\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita of limb\Recessive aplasia cutis congenita of limbs

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

Status: current, Defined. 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 Case insensitive SNOMED CT core
3424849017 Autosomal recessive aplasia cutis congenita of limb en Synonym Active Case insensitive SNOMED CT core
3424851018 Recessive aplasia cutis congenita of limbs en Synonym Active Case insensitive 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 Inactive Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424848013	Autosomal recessive aplasia cutis congenita of limb (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424849017	Autosomal recessive aplasia cutis congenita of limb	en	Synonym	Active	Case insensitive	SNOMED CT core
3424851018	Recessive aplasia cutis congenita of limbs	en	Synonym	Active	Case insensitive	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	Inactive	Case sensitive	SNOMED CT core