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1234831009: Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5084176012 MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5084177015 Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5084178013 Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5084179017 Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5084180019 MIRAGE syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5084181015 A rare genetic disease with characteristics of pre and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly and arachnodactyly among others) may also be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5084182010 A rare genetic disease with characteristics of pre and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias or cryptorchidism), thrombocytopenia and/or anaemia, recurrent severe invasive infections and enteropathy with chronic diarrhoea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly and arachnodactyly among others) may also be observed. 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
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Adrenogenital disorder true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Short stature co-occurrent and due to endocrine disorder (disorder) true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) 46,XY disorder of sex development true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of adrenal gland true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Due to pathologie endocrinologique true Inferred relationship Some 3
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) localisation d'une constatation (attribut) Genital structure true Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) localisation d'une constatation (attribut) cortex surrénalien true Inferred relationship Some 2
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) interprète (attribut) mesure de la taille corporelle true Inferred relationship Some 4
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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