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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 Reference Sets
3321039016 Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321040019 Aplasia cutis congenita with intestinal lymphangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321041015 Bronspiegel Zelnick syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
3922631000052110 syndrom med aplasia cutis congenita och intestinal lymfangiektasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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 true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Intestinal lymphangiectasis true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Hereditary disorder of lymphatic system (disorder) true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Finding site Skin part true Inferred relationship Some 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Lymphangiectasis false Inferred relationship Some 3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Finding site Structure of lymphatic vessel of intestine (body structure) false Inferred relationship Some 3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Lymphangiectasis true Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Lymphatic malformation false Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Finding site Structure of lymphatic vessel of intestine (body structure) true Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital anomaly of abdomen false Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital anomaly of lymphatic structure of trunk (disorder) true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital lymphangiectasia true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Congenital anomaly of lower trunk true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Associated morphology Aplasia true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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