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763863002: Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3644789015 Zori Stalker Williams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644790012 Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644791011 Pectus excavatum, macrocephaly, dysplastic nails syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404242013 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404243015 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterised by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644789015 Zori Stalker Williams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644790012 Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644791011 Pectus excavatum, macrocephaly, dysplastic nails syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644792016 A rare multiple congenital anomalies syndrome with characteristics of relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404242013 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404243015 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterised by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439871001000112 Pectus excavatum-Makrozephalie-Nageldysplasie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997371000172110 syndrome de Zori-Stalker-Williams fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011871000172119 syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997371000172110 syndrome de Zori-Stalker-Williams fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011871000172119 syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439871001000112 Pectus excavatum-Makrozephalie-Nageldysplasie-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
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a macrocéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Congenital anomaly of nail true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Congenital pectus excavatum (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Bone structure of sternum false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Bone structure of rib false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Bone structure of sternum false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Entire head false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Entire head false Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pectus excavatum, macrocephaly, dysplastic nails syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Deformity (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Deformity (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pectus excavatum, macrocephaly, dysplastic nails syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pectus excavatum, macrocephaly, dysplastic nails syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a Congenital dysplasia of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Depression deformity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Bone structure of sternum true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pectus excavatum, macrocephaly, dysplastic nails syndrome Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pectus excavatum, macrocephaly, dysplastic nails syndrome Associated morphology Abnormal curvature (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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