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770567006: syndrome progéroïde type Petty (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
1006021000172117 syndrome de Petty fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3701302010 Progeroid syndrome Petty type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701303017 Progeroid syndrome Petty type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3701304011 Petty syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3701307016 Petty Laxova Wiedemann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
769441000241116 syndrome progéroïde type Petty (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
932191000172118 syndrome progéroïde type Petty fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3701306013 A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. 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
Progeroid syndrome Petty type survenue (attribut) congénital true Inferred relationship Some 1
Progeroid syndrome Petty type localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 1
Progeroid syndrome Petty type est un(e) (attribut) Premature aging syndrome (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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