FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1204421005: Lymphedema, posterior choanal atresia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4955468016 Lymphedema, posterior choanal atresia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4955469012 Lymphedema, posterior choanal atresia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4955470013 Lymphoedema, posterior choanal atresia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399802013 A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399803015 A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Choanal atresia true Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Hereditary lymphedema false Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Lymphedema of lower extremity (disorder) true Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Lymphedema, posterior choanal atresia syndrome (disorder) Finding site Structure of choana (body structure) true Inferred relationship Some 2
Lymphedema, posterior choanal atresia syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Some 2
Lymphedema, posterior choanal atresia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lymphedema, posterior choanal atresia syndrome (disorder) Finding site Lower limb structure true Inferred relationship Some 1
Lymphedema, posterior choanal atresia syndrome (disorder) Associated morphology Lymphatic edema true Inferred relationship Some 1
Lymphedema, posterior choanal atresia syndrome (disorder) Is a Hereditary lymphedema true Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lymphedema, posterior choanal atresia syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start