43948000: Congenital abnormal shape (morphologic abnormality)

Status: retired, Not 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

73279017 Congenital abnormal shape en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781019010 Congenital abnormal shape (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2794931000005113 kongenit abnorm form da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit abnorm form	Is a	kongenit vækstændring	false	Inferred relationship	Some
kongenit abnorm form	Is a	Kongenit malformation	false	Inferred relationship	Some
kongenit abnorm form	Is a	Abnormal shape (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital abnormality of skull shape	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	3
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	2
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	6
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	kongenit abnorm form	Inferred relationship	Some	4
Uterus bicornis bicollis with blind hemi-vagina (disorder)	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
Uterus bicornis bicollis with patent cervix and vagina	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	4
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	5
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	2
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	3
Kongenit diskoid menisk	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
Hypotaurodontism (disorder)	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
Trigonocephaly	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
Long narrow head	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
Posterior lenticonus	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	4
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	2
Secondary lens coloboma (disorder)	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	2
Primary lens coloboma (disorder)	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	2
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	kongenit abnorm form	Inferred relationship	Some	1
A rare developmental defect of the eye with characteristics of bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.	Associated morphology	False	kongenit abnorm form	Inferred relationship	Some	1

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
73279017	Congenital abnormal shape	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
781019010	Congenital abnormal shape (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2794931000005113	kongenit abnorm form	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)