111324004: Congenital absence of breast (disorder)

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

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of breast\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of breast\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Breast finding\Absence of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Breast finding\Disorder of breast\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of breast\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Disease\Disorder of body system\Disorder of breast\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of breast\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of breast\Congenital absence of breast (disorder)

Status: current, 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
Congenital absence of breast (disorder)	Is a	Congenital anomaly of breast	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of breast (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of breast (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of breast (disorder)	Finding site	Breast structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of breast (disorder)	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of breast (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of breast (disorder)	Finding site	Breast structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of breast (disorder)	Is a	Absence of breast	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of breast (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of breast (disorder)	Finding site	Breast structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of breast (disorder)	Is a	Congenital absence	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of breast (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of breast (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of breast (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital absence of breast (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital absence of breast with absent nipple	Is a	True	Congenital absence of breast (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of nipple	Is a	True	Congenital absence of breast (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.	Is a	False	Congenital absence of breast (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital absence of bilateral breasts (disorder)	Is a	True	Congenital absence of breast (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of breast	Is a	True	Congenital absence of breast (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178556018	Congenital absence of breast	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
630340012	Congenital absence of breast (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178556018	Congenital absence of breast	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178556018	Congenital absence of breast	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
630340012	Congenital absence of breast (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
630340012	Congenital absence of breast (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
890471000195115	Angeborenes Fehlen der Mamma	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890481000195118	Kongenitales Fehlen der Mamma	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890491000195116	Angeborenes Fehlen der Brust	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890501000195114	Kongenitales Fehlen der Brust	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4750211000241112	absence congénitale du sein	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4750211000241112	absence congénitale du sein	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890471000195115	Angeborenes Fehlen der Mamma	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890481000195118	Kongenitales Fehlen der Mamma	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890491000195116	Angeborenes Fehlen der Brust	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890501000195114	Kongenitales Fehlen der Brust	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module