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771262009: pseudolepréchaunisme de Patterson (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705333018 Patterson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705334012 Pseudoleprechaunism syndrome Patterson type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705335013 Pseudoleprechaunism syndrome Patterson type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705336014 Patterson pseudoleprechaunism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
770411000241115 pseudolepréchaunisme de Patterson (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
893291000172117 pseudolepréchaunisme de Patterson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3705337017 A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. 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
Pseudoleprechaunism syndrome Patterson type (disorder) a pour interprétation (attribut) augmenté true Inferred relationship Some 2
Pseudoleprechaunism syndrome Patterson type (disorder) interprète (attribut) Hormone production, function (observable entity) true Inferred relationship Some 2
Pseudoleprechaunism syndrome Patterson type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Pseudoleprechaunism syndrome Patterson type (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
Pseudoleprechaunism syndrome Patterson type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pseudoleprechaunism syndrome Patterson type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Pseudoleprechaunism syndrome Patterson type (disorder) morphologie associée (attribut) Hyperpigmentation (morphologic abnormality) true Inferred relationship Some 1
Pseudoleprechaunism syndrome Patterson type (disorder) localisation d'une constatation (attribut) glande suprarénale true Inferred relationship Some 3
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) constatation fonctionnelle false Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) hyperpigmentation de la peau true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) Increased hormone production false Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 4
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) Adrenal hyperfunction true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) anomalies congénitales de pigmentation de la peau true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) affection dégénérative false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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