403756008: Aplasia cutis in Trisomy 13 syndrome (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 in Trisomy 13 syndrome

\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome
\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 in Trisomy 13 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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome

\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 in Trisomy 13 syndrome
\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 in Trisomy 13 syndrome
\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 in Trisomy 13 syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Aplasia of skin\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome

\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 in Trisomy 13 syndrome
\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 in Trisomy 13 syndrome
\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 in Trisomy 13 syndrome
\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 in Trisomy 13 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 (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome
\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 in Trisomy 13 syndrome
\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 in Trisomy 13 syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Aplasia cutis congenita (disorder)\Aplasia cutis in Trisomy 13 syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771682013 Aplasia cutis in Trisomy 13 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1782766014 Aplasia cutis in Trisomy 13 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1771682013 Aplasia cutis in Trisomy 13 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1782766014 Aplasia cutis in Trisomy 13 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5264341000241119 aplasie de la peau dans le syndrome de la trisomie 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5264341000241119 aplasie de la peau dans le syndrome de la trisomie 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia cutis in Trisomy 13 syndrome	Is a	Aplasia cutis congenita (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome	Is a	Complete trisomy 13 syndrome (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia cutis in Trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Trisomy (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Aplasia cutis in Trisomy 13 syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Associated with	Complete trisomy 13 syndrome (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia cutis in Trisomy 13 syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Congenital partial absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia cutis in Trisomy 13 syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Finding site	Skin part (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia cutis in Trisomy 13 syndrome	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1771682013	Aplasia cutis in Trisomy 13 syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782766014	Aplasia cutis in Trisomy 13 syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1771682013	Aplasia cutis in Trisomy 13 syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1782766014	Aplasia cutis in Trisomy 13 syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5264341000241119	aplasie de la peau dans le syndrome de la trisomie 13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5264341000241119	aplasie de la peau dans le syndrome de la trisomie 13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module