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720606005: Cardiocranial syndrome Pfeiffer type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3321520016 Cardiocranial syndrome Pfeiffer type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321521017 Cardiocranial syndrome Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3321522012 Craniosynostosis with congenital heart disease and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321523019 Pfeiffer Singer Zschiesche syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321524013 Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3321525014 An extremely rare disorder found in less than ten patients worldwide with characteristics of congenital heart defect, sagittal craniosynostosis and severe developmental delay. Genital and renal anomalies, and various dysmorphic features may be present. Joint and palpebral abnormalities may also occur. The occurrence of the syndrome in a brother-sister sibship supports the hypothesis of autosomal recessive inheritance. Autosomal dominant inheritance and submicroscopic deletions have also been proposed as possible causes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
908411000172110 syndrome de Pfeiffer-Singer-Zschiesche fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
973231000172119 syndrome cardio-crânien type Pfeiffer fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2150831000172110 syndrome de craniosténose sagittale cardiopathie congénitale déficience intellectuelle ankylose mandibulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2150861000172116 syndrome de Pfeiffer Singer Zschiesche fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2150881000172111 syndrome de craniosynostose cardiopathie déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
875091000172115 cardiocraniaal syndroom, Pfeiffer-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
935841000172112 craniosynostose, congenitale hartziekte, intellectuele achterstand-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2150821000172112 syndroom van Pfeiffer-Singer-Zschiesche nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2150841000172115 "syndroom van craniosynostose, congenitale hartafwijking en mentale retardatie" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2150851000172118 "Sagittale craniostenose met congenitale hartziekte, mentale achterstand en mandibulaire ankylose" nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2150871000172113 "syndroom van craniosynostose, congenitale hartafwijking en verstandelijke beperking" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cardiocranial syndrome Pfeiffer type (disorder) Is a Congenital heart disease true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Congenital anomaly of skull true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Developmental delay true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 2
Cardiocranial syndrome Pfeiffer type (disorder) Occurrence Congenital true Inferred relationship Some 2
Cardiocranial syndrome Pfeiffer type (disorder) Finding site Structure of sagittal suture of skull false Inferred relationship Some 2
Cardiocranial syndrome Pfeiffer type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Cardiocranial syndrome Pfeiffer type (disorder) Occurrence Congenital false Inferred relationship Some 3
Cardiocranial syndrome Pfeiffer type (disorder) Finding site Heart structure false Inferred relationship Some 3
Cardiocranial syndrome Pfeiffer type (disorder) Finding site Heart structure true Inferred relationship Some 2
Cardiocranial syndrome Pfeiffer type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cardiocranial syndrome Pfeiffer type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cardiocranial syndrome Pfeiffer type (disorder) Occurrence Congenital true Inferred relationship Some 1
Cardiocranial syndrome Pfeiffer type (disorder) Finding site Structure of sagittal suture of skull true Inferred relationship Some 1
Cardiocranial syndrome Pfeiffer type (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 1
Cardiocranial syndrome Pfeiffer type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Cardiocranial syndrome Pfeiffer type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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