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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. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3498174017 Robin sequence with cleft mandible and limb anomalies syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3498175016 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3498176015 Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3498177012 Richieri Costa Pereira syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


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 Is a Robin sequence true Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a Cleft mandible true Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Finding site Limb structure true Inferred relationship Existential restriction modifier 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Finding site Bone structure of mandible false Inferred relationship Existential restriction modifier 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Finding site Limb structure false Inferred relationship Existential restriction modifier 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Associated morphology Developmental failure of fusion false Inferred relationship Existential restriction modifier 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Finding site Bone structure of mandible true Inferred relationship Existential restriction modifier 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Associated morphology Developmental failure of fusion true Inferred relationship Existential restriction modifier 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 3
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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