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733086003: pseudoprogéria (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498715018 Hall Berg Rudolph syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498716017 Pseudoprogeria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498717014 Pseudoprogeria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498718016 Absent eyebrows and eyelashes with intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
762901000241117 pseudoprogéria (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
937881000172113 syndrome d'absence de sourcils et de cils, déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
964191000172118 pseudoprogéria fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3499965013 Syndrome with characteristics of intellectual deficit associated with progressive spastic quadriplegia, microcephaly, and glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. 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
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Entire eyelash true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Disorder of hair growth true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) alopécie (trouble) false Inferred relationship Some
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Congenital anomaly of hair false Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Ablepharon false Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Aplasia of skin true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 4
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Congenital microcephaly (disorder) true Inferred relationship Some
Pseudoprogeria syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Structure of central nervous system (body structure) true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Congenital anomaly of central nervous system true Inferred relationship Some
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Inherited metabolic disorder of nervous system true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) microcéphalie false Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Tetraplegia true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Congenital absence of eyelash true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Congenital glaucoma (disorder) true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Absent eyebrow true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Premature aging syndrome (disorder) true Inferred relationship Some
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Entire eyelash false Inferred relationship Some 9
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Entire eyebrow true Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) localisation d'une constatation (attribut) Entire eyebrow false Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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