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

\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of lymphatic vessel\Lymphatic malformation\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of lymphatic vessel\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of lymphatic system\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of lymphatic system\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Hereditary disorder of lymphatic system\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Congenital anomaly of lymphatic structure of trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Disorder of lymphatic vessel\Lymphatic malformation\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Disorder of lymphatic system\Disorder of lymphatic vessel\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Congenital disease\Congenital anomaly\Lymphatic malformation\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Aplasia of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\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 with intestinal lymphangiectasia syndrome
\Disease\Disorder of soft tissue\Disorder of lymphatic vessel\Lymphatic malformation\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Disorder of soft tissue\Disorder of lymphatic vessel\Intestinal lymphangiectasis\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Lymphatic malformation\Congenital lymphangiectasia\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lymphatic structure of trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Aplasia cutis congenita with intestinal lymphangiectasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Aplasia cutis congenita\Aplasia cutis congenita with intestinal lymphangiectasia syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3321040019 Aplasia cutis congenita with intestinal lymphangiectasia syndrome en Synonym Active Case insensitive SNOMED CT core

3321041015 Bronspiegel Zelnick syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Associated morphology	Lymphangiectasis	true	Inferred relationship	Some	1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Lymphatic malformation	false	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Finding site	Structure of lymphatic vessel of intestine	true	Inferred relationship	Some	1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Congenital anomaly of abdomen	false	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Congenital anomaly of lymphatic structure of trunk	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Congenital lymphangiectasia	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Congenital anomaly of lower trunk	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Aplasia cutis congenita	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Intestinal lymphangiectasis	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Is a	Hereditary disorder of lymphatic system	true	Inferred relationship	Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Finding site	Skin part	true	Inferred relationship	Some	2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Associated morphology	Lymphangiectasis	false	Inferred relationship	Some	3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Finding site	Structure of lymphatic vessel of intestine	false	Inferred relationship	Some	3

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
3321039016	Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321040019	Aplasia cutis congenita with intestinal lymphangiectasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321041015	Bronspiegel Zelnick syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core