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721083007: syndroom van lymfoedeem en hypoparathyreoïdie (aandoening)


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
3323395011 Lymphedema hypoparathyroidism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323396012 Lymphedema hypoparathyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323397015 Lymphoedema hypoparathyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323398013 Dahlberg Borer Newcomer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323399017 Dahlberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6114211000146113 syndroom van Dahlberg-Borer-Newcomer nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729761000146119 syndroom van lymfoedeem en hypoparathyreoïdie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6729771000146113 syndroom van lymfoedeem en hypoparathyreoïdie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6850321000146117 syndroom van Dahlberg nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7003011000146112 syndroom van lymfoedeem en hypoparathyroïdie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323400012 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323401011 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. 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 hypoparathyroidism syndrome (disorder) Associated morphology Lymphatic edema false Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Hypoparathyroidism true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Hereditary lymphedema true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Parathyroid structure false Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Has definitional manifestation Decreased hormone secretion false Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 5
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 5
Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology Lymphatic edema true Inferred relationship Some 1
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Parathyroid structure false Inferred relationship Some 2
Lymphedema hypoparathyroidism syndrome (disorder) Interprets Hormone secretion true Inferred relationship Some 3
Lymphedema hypoparathyroidism syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 3
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Lymphedema hypoparathyroidism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Lymphedema hypoparathyroidism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Parathyroid structure true Inferred relationship Some 5
Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 4
Lymphedema hypoparathyroidism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 4
Lymphedema hypoparathyroidism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 4
Lymphedema hypoparathyroidism syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a Congenital anomaly of limb true Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Finding site Limb structure true Inferred relationship Some 1
Lymphedema hypoparathyroidism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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