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733086003: Pseudoprogeria syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498715018 Hall Berg Rudolph syndrome en Synonym Active Case sensitive SNOMED CT core
3498716017 Pseudoprogeria syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3498717014 Pseudoprogeria syndrome en Synonym Active Case insensitive SNOMED CT core
3498718016 Absent eyebrows and eyelashes with intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pseudoprogeria syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Some 2
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Some 1
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Some 3
Pseudoprogeria syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Pseudoprogeria syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Pseudoprogeria syndrome Pathological process Pathological developmental process false Inferred relationship Some 3
Pseudoprogeria syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Some 4
Pseudoprogeria syndrome Associated morphology Congenital smallness true Inferred relationship Some 4
Pseudoprogeria syndrome Finding site Brain structure false Inferred relationship Some 4
Pseudoprogeria syndrome Finding site Eye structure true Inferred relationship Some 2
Pseudoprogeria syndrome Finding site Skin structure false Inferred relationship Some 3
Pseudoprogeria syndrome Finding site Entire eyelash true Inferred relationship Some 1
Pseudoprogeria syndrome Is a Disorder of hair growth true Inferred relationship Some
Pseudoprogeria syndrome Is a Alopecia false Inferred relationship Some
Pseudoprogeria syndrome Associated morphology Agenesis true Inferred relationship Some 5
Pseudoprogeria syndrome Associated morphology Agenesis true Inferred relationship Some 1
Pseudoprogeria syndrome Is a Congenital anomaly of hair false Inferred relationship Some
Pseudoprogeria syndrome Is a Ablepharon false Inferred relationship Some
Pseudoprogeria syndrome Is a Aplasia of skin true Inferred relationship Some
Pseudoprogeria syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Pseudoprogeria syndrome Finding site Structure of head true Inferred relationship Some 4
Pseudoprogeria syndrome Is a Congenital microcephaly true Inferred relationship Some
Pseudoprogeria syndrome Has interpretation Below reference range true Inferred relationship Some 3
Pseudoprogeria syndrome Interprets Birth head circumference true Inferred relationship Some 3
Pseudoprogeria syndrome Finding site Structure of central nervous system true Inferred relationship Some 6
Pseudoprogeria syndrome Is a Congenital anomaly of central nervous system true Inferred relationship Some
Pseudoprogeria syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 6
Pseudoprogeria syndrome Pathological process Pathological developmental process true Inferred relationship Some 6
Pseudoprogeria syndrome Interprets Intellectual ability false Inferred relationship Some 7
Pseudoprogeria syndrome Has interpretation Impaired true Inferred relationship Some 7
Pseudoprogeria syndrome Interprets Adaptation behaviour false Inferred relationship Some 8
Pseudoprogeria syndrome Has interpretation Impaired true Inferred relationship Some 8
Pseudoprogeria syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Pseudoprogeria syndrome Interprets Movement true Inferred relationship Some 10
Pseudoprogeria syndrome Interprets Adaptation behaviour true Inferred relationship Some 7
Pseudoprogeria syndrome Interprets Intellectual ability true Inferred relationship Some 8
Pseudoprogeria syndrome Interprets Movement observable true Inferred relationship Some 9
Pseudoprogeria syndrome Has interpretation Absent true Inferred relationship Some 9
Pseudoprogeria syndrome Is a Microcephalus false Inferred relationship Some
Pseudoprogeria syndrome Is a Tetraplegia true Inferred relationship Some
Pseudoprogeria syndrome Is a Congenital anomaly of brain false Inferred relationship Some
Pseudoprogeria syndrome Is a Congenital absence of eyelash true Inferred relationship Some
Pseudoprogeria syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Pseudoprogeria syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pseudoprogeria syndrome Is a Intellectual disability false Inferred relationship Some
Pseudoprogeria syndrome Is a Congenital glaucoma true Inferred relationship Some
Pseudoprogeria syndrome Is a Absent eyebrow true Inferred relationship Some
Pseudoprogeria syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Pseudoprogeria syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Pseudoprogeria syndrome Is a Premature ageing syndrome true Inferred relationship Some
Pseudoprogeria syndrome Associated morphology Congenital smallness false Inferred relationship Some 5
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Some 5
Pseudoprogeria syndrome Finding site Brain structure false Inferred relationship Some 5
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Some 6
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Some 7
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Some 8
Pseudoprogeria syndrome Associated morphology Congenital absence false Inferred relationship Some 9
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Some 9
Pseudoprogeria syndrome Finding site Entire eyelash false Inferred relationship Some 9
Pseudoprogeria syndrome Finding site Entire eyebrow true Inferred relationship Some 5
Pseudoprogeria syndrome Finding site Skin structure false Inferred relationship Some 6
Pseudoprogeria syndrome Finding site Eye structure false Inferred relationship Some 7
Pseudoprogeria syndrome Associated morphology Congenital absence false Inferred relationship Some 8
Pseudoprogeria syndrome Finding site Entire eyebrow false Inferred relationship Some 8
Pseudoprogeria syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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