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770567006: Progeroid syndrome Petty 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
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
5404816015 Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel 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
5404817012 Progeroid syndrome, Petty type is a rare premature aging syndrome characterised by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel 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 Occurrence Congenital true Inferred relationship Some 1
Progeroid syndrome Petty type Finding site Skin structure true Inferred relationship Some 1
Progeroid syndrome Petty type Is a Premature aging syndrome (disorder) true Inferred relationship Some
Progeroid syndrome Petty type Is a Disorder involving the integument of fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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