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771262009: Pseudoleprechaunism syndrome Patterson type (disorder)


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
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
893291000172117 pseudolepréchaunisme de Patterson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Adrenal hyperfunction true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Short stature disorder true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Intellectual disability true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Congenital pigmentary skin anomalies true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Degenerative disorder false Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Has interpretation Increased true Inferred relationship Some 2
Pseudoleprechaunism syndrome Patterson type (disorder) Interprets Hormone production true Inferred relationship Some 2
Pseudoleprechaunism syndrome Patterson type (disorder) Occurrence Congenital true Inferred relationship Some 1
Pseudoleprechaunism syndrome Patterson type (disorder) Finding site Skin structure 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) Associated morphology Hyperpigmentation true Inferred relationship Some 1
Pseudoleprechaunism syndrome Patterson type (disorder) Finding site Adrenal structure true Inferred relationship Some 3
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Functional finding false Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Hyperpigmentation of skin true Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a Increased hormone production false Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Pseudoleprechaunism syndrome Patterson type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Pseudoleprechaunism syndrome Patterson type (disorder) Has interpretation Impaired true Inferred relationship Some 5
Pseudoleprechaunism syndrome Patterson type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Pseudoleprechaunism syndrome Patterson type (disorder) Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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