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733086003: Pseudoprogeria syndrome (disorder)


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
5403726013 A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403727016 A rare syndromic intellectual deficiency characterised by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5403726013 A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403727016 A rare syndromic intellectual deficiency characterised by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
603031000274111 Fehlende Augenbrauen und Lider-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443271001000113 Pseudo-Progerie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
964191000172118 pseudoprogéria fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
964191000172118 pseudoprogéria fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603031000274111 Fehlende Augenbrauen und Lider-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443271001000113 Pseudo-Progerie-Syndrom de 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
Pseudoprogeria syndrome Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Quadriplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Congenital absence of eyelash true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Angeborenes Glaukom true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Absent eyebrow true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Premature aging syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoprogeria syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pseudoprogeria syndrome Finding site Entire eyelash false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pseudoprogeria syndrome Finding site Entire eyebrow (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoprogeria syndrome Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pseudoprogeria syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoprogeria syndrome Finding site Entire eyebrow (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoprogeria syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoprogeria syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudoprogeria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pseudoprogeria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoprogeria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudoprogeria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pseudoprogeria syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pseudoprogeria syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pseudoprogeria syndrome Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudoprogeria syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudoprogeria syndrome Finding site Entire eyelash true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoprogeria syndrome Is a Disorder of hair growth (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Alopecia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pseudoprogeria syndrome Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pseudoprogeria syndrome Is a Congenital anomaly of hair false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Ablepharon false Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Aplasia of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pseudoprogeria syndrome Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudoprogeria syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudoprogeria syndrome Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoprogeria syndrome Is a Congenital anomaly of central nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoprogeria syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoprogeria syndrome Interprets Intellectual ability (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pseudoprogeria syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Pseudoprogeria syndrome Interprets Adaptation behavior false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoprogeria syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoprogeria syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 10
Pseudoprogeria syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Pseudoprogeria syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Pseudoprogeria syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 9
Pseudoprogeria syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 9
Pseudoprogeria syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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