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723998001: Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot 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
3498174017 Robin sequence with cleft mandible and limb anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498175016 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3498176015 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3498177012 Richieri Costa Pereira syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403189010 Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403190018 Richieri Costa-Pereira syndrome is characterised by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. 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
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Robin sequence true Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Cleft mandible true Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Finding site Limb structure true Inferred relationship Some 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Some 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Finding site Limb structure false Inferred relationship Some 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a Developmental hereditary disorder 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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