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720500008: Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321039016 Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321040019 Aplasia cutis congenita with intestinal lymphangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321041015 Bronspiegel Zelnick syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321042010 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321043017 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321039016 Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321039016 Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321040019 Aplasia cutis congenita with intestinal lymphangiectasia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321040019 Aplasia cutis congenita with intestinal lymphangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321041015 Bronspiegel Zelnick syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321042010 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321043017 An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435121001000117 Aplasia cutis congenita mit intestinaler Lymphangiektasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980851000172113 syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
998861000172113 aplasie cutanée congénitale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980851000172113 syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
998861000172113 aplasie cutanée congénitale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435121001000117 Aplasia cutis congenita mit intestinaler Lymphangiektasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Aplasia cutis congenita (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Intestinal lymphangiectasis true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Herditary disorder of lymphatic system true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Finding site Skin part (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Lymphangiectasis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Finding site Structure of lymphatic vessel of intestine (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Lymphangiectasis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Lymphatic malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Finding site Structure of lymphatic vessel of intestine (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital anomaly of abdomen false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital anomaly of lymphatic structure of trunk true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital lymphangiectasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital anomaly of lower trunk true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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