67798003: Congenital premature fusion (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital premature fusion	Is a	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	10
Hunter McAlpine craniosynostosis syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lowry MacLean syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	7
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.	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Scaphycephaly	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Familial scaphocephaly syndrome McGillivray type (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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.	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Craniosynostosis fibular aplasia syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
syndrome de Summitt	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
SCARF syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Solitary median maxillary central incisor syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniosynostosis Herrmann Opitz type (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
synostose lambdoïde familiale	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hunter McAlpine craniosynostosis syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cardiocranial syndrome Pfeiffer type (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome de Summitt	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Saethre-Chotzen syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Crouzon syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pseudoaminopterin syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniosynostosis fibular aplasia syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holoprosencephaly craniosynostosis syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrocephalosyndactyly type I	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Crouzon syndrome with acanthosis nigricans (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniosynostosis and intracranial calcification syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Closed ductus venosus	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Vomero-premaxillary faciosynostosis (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Baller-Gerold syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Complete perimaxillary faciosynostosis	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
C syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Goodman-Syndrom	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trigonocephaly with broad thumb syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial scaphocephaly syndrome McGillivray type (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Capra DeMarco syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Craniosynostosis Boston type (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Jackson-Weiss syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
SCARF syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lowry MacLean syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniosynostosis and dental anomalies syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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.	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Craniorhiny (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Muenke syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Posterior perimaxillary faciosynostosis	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dolichocephalic dwarfism (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Long narrow head (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Antley-Bixler syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Parieto-occipital craniosynostosis	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
synostose lambdoïde familiale	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fronto-malar faciosynostosis (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Cloverleaf skull syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cloverleaf skull syndrome	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Pfeiffer syndrome type 1 (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 2	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pfeiffer syndrome type 3 (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Non-syndromic metopic craniosynostosis (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder)	Associated morphology	False	Congenital premature fusion	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
112607017	Congenital premature fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112609019	Congenital premature closure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807561017	Congenital premature fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112607017	Congenital premature fusion	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
112607017	Congenital premature fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112609019	Congenital premature closure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
112609019	Congenital premature closure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807561017	Congenital premature fusion (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
807561017	Congenital premature fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core