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371520008: Developmental failure of fusion (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1196819011 Developmental failure of fusion (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1210156016 Developmental failure of fusion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental failure of fusion (morphologic abnormality) Is a anomalie du développement false Inferred relationship Some
Developmental failure of fusion (morphologic abnormality) Is a Defect false Inferred relationship Some
Developmental failure of fusion (morphologic abnormality) Is a Mechanical lesion false Inferred relationship Some
Developmental failure of fusion (morphologic abnormality) Is a Failure of fusion (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 5
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 6
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 7
Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Submucous cleft of hard palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Cleft hard palate, central Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard palate, bilateral Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete cleft hard and soft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft of soft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft soft palate, bilateral Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Complete cleft of soft palate (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete cleft of soft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Occult submucous cleft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Central incomplete cleft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Central incomplete cleft palate Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Cleft of hard palate (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Submucous cleft palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Central cleft of soft palate (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of left cleft lip using straight line technique (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of right cleft lip using straight line technique Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft of soft palate and bilateral cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft of soft palate and cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Repair of left cleft lip with triangular flap Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of right cleft lip with triangular flap (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of left partial cleft lip Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of right partial cleft lip Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of partial cleft lip Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft lip and cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Median cleft lip and cleft of alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Incomplete right cleft lip and incomplete cleft of right alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Complete left cleft lip and complete cleft of left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Complete right cleft lip and complete cleft of right alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Cleft of alveolar ridge (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Lip adhesion of bilateral cleft lips (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of bilateral cleft lip using triangular repair Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Lip adhesion of left cleft lip Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Lip adhesion of right cleft lip (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of left cleft lip Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of right cleft lip Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cheilognathoschisis Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cheilognathoprosoposchisis Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cheilognathoprosoposchisis Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Cleft mandible Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft of primary palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Bilateral cleft of primary palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard palate with cleft lip, bilateral Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 4
Craniofacial cleft (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Orofacial cleft (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Repair of bilateral cleft lip using rotation advancement flap (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Right cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Left cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of right cleft lip with rotation advancement flap (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip and left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 4
Complete left cleft lip and complete cleft of left alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete right cleft lip Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Byzanthine arch palate Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Complete right cleft lip and complete cleft of right alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete right cleft lip and incomplete cleft of right alveolar process of maxilla Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Incomplete left cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 4
Repair of left cleft lip with rotation advancement flap (procedure) Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 4
Complete right cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Complete left cleft lip (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Millard operation, cleft lip repair Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 4
Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Repair of bilateral cleft lip with quadrilateral flap Direct morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Cheilognathoschisis Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 3
Occult spinal dysraphism sequence Associated morphology True Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 1
Occult spinal dysraphism sequence Associated morphology False Developmental failure of fusion (morphologic abnormality) Inferred relationship Some 2

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