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700057001: Emberger syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2988911010 Emberger syndrome en Synonym Active Case sensitive SNOMED CT core
2988917014 Emberger syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3789196014 Deafness - lymphedema - leukemia syndrome en Synonym Active Case insensitive SNOMED CT core
3789197017 Deafness - lymphoedema - leukaemia syndrome en Synonym Active Case insensitive SNOMED CT core
4551458016 A rare genetic disease with characteristics of the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. en Definition Active Case sensitive SNOMED CT core
4551459012 A rare genetic disease with characteristics of the association of primary lymphoedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukaemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Emberger syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Emberger syndrome Is a Congenital hearing disorder false Inferred relationship Some
Emberger syndrome Is a Hereditary lymphoedema true Inferred relationship Some
Emberger syndrome Is a Auditory system hereditary disorder false Inferred relationship Some
Emberger syndrome Finding site Structure of auditory system false Inferred relationship Some 1
Emberger syndrome Occurrence Congenital false Inferred relationship Some 1
Emberger syndrome Associated morphology Lymphatic oedema true Inferred relationship Some 2
Emberger syndrome Interprets Hearing false Inferred relationship Some 3
Emberger syndrome Is a Hereditary disorder by system true Inferred relationship Some
Emberger syndrome Finding site Bone marrow structure true Inferred relationship Some 1
Emberger syndrome Associated morphology Acute myeloid leukaemia with multilineage dysplasia true Inferred relationship Some 1
Emberger syndrome Is a Acute myeloid leukaemia with myelodysplasia-related changes true Inferred relationship Some
Emberger syndrome Finding site Limb structure true Inferred relationship Some 2
Emberger syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Emberger syndrome Is a Hereditary neoplastic syndrome true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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