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57219006: Craniosynostosis syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
95171016 Craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95172011 Craniostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95173018 Craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95174012 Premature closure of cranial sutures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95175013 Congenital ossification of cranial sutures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95176014 Congenital ossification of sutures of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95177017 Craniostenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795817015 Craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231700010 CSO - Craniosynostosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1231701014 Premature cranial suture closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95171016 Craniosynostosis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95171016 Craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95172011 Craniostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95172011 Craniostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95173018 Craniosynostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95173018 Craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95174012 Premature closure of cranial sutures en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95174012 Premature closure of cranial sutures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95175013 Congenital ossification of cranial sutures en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95175013 Congenital ossification of cranial sutures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95176014 Congenital ossification of sutures of skull en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95176014 Congenital ossification of sutures of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95177017 Craniostenosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95177017 Craniostenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795817015 Craniosynostosis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
795817015 Craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231700010 CSO - Craniosynostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231700010 CSO - Craniosynostosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1231701014 Premature cranial suture closure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231701014 Premature cranial suture closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3381001001000110 Kraniosynostose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
88261000172117 craniosténose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
466731000172113 syndrome de craniosynostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
506041000172111 craniosynostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
88261000172117 craniosténose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
466731000172113 syndrome de craniosynostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
506041000172111 craniosynostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381001001000110 Kraniosynostose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

69 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis syndrome Is a Congenital anomaly of joint false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a Congenital abnormality of skull and face bones (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Is a Congenital anomaly of bone and joint false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a Cranial suture finding (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis syndrome Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis syndrome Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a Congenital anomaly of joint false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis syndrome Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis syndrome Is a Disease of skull false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a Lesion of joint false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a Imperfect fusion of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis syndrome Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Interfrontal craniofaciosynostosis (disorder) Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-parietal craniofaciosynostosis Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-malar faciosynostosis (disorder) Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Parieto-occipital craniosynostosis Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Interparietal craniosynostosis (disorder) Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Unicoronal craniosynostosis Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Bicoronal craniosynostosis Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull syndrome Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Schprintzen Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Apert's syndrome Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder) Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Baller-Gerold syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Saethre-Chotzen syndrome Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type I Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephaly Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter's syndrome Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Complex craniosynostosis Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Simple craniosynostosis (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Jackson-Weiss syndrome (disorder) Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Acrobrachycephaly Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly craniosynostosis syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoaminopterin syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Cardiocranial syndrome Pfeiffer type (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dyssynostosis syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Hunter McAlpine craniosynostosis syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Lowry MacLean syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Familial scaphocephaly syndrome McGillivray type (disorder) Is a False Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed. Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis fibular aplasia syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
SCARF syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Herrmann Opitz type (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniorhiny (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Long narrow head (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Philadelphia type (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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