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49755003: Morphologically abnormal structure (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5206 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure (morphologic abnormality) Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
16p12.1p12.3 triplication syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
16p12.1p12.3 triplication syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
4q25 proximal deletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
4q25 proximal deletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Lamb Shaffer syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
12p12.1 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spondylodysplastic Ehlers-Danlos syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Persistent cloaca Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital prepapillary vascular loop Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Twin monochorionic monoamniotic placenta Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Myopathic Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Myopathic Ehlers-Danlos syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Classical-like Ehlers-Danlos syndrome type 2 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Oculocerebrodental syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Oculocerebrodental syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Congenital myopathy with reduced type 2 muscle fibers Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
X-linked intellectual disability, short stature, overweight syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital isolated onychodysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Laparoscopic anorectoplasty (procedure) Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Laparoscopic anorectoplasty (procedure) Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ebstein's anomaly of common atrioventricular valve Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Common atrioventricular valve prolapse Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Baraitser Winter cerebrofrontofacial syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Menke Hennekam syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Kartagener syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 6
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Robinow syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Autosomal recessive Robinow syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 7
Autosomal dominant Robinow syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 7
Autosomal recessive Robinow syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cleidorhizomelic syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Multiple epiphyseal dysplasia Lowry type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 6
Fetal trimethadione syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital non-syndromic anorectal malformation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Marden Walker syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Usher syndrome type 1F (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Trichothiodystrophy (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Trichodysplasia xeroderma syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Sabinas brittle hair syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Onycho-tricho-dysplasia neutropenia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of left fallopian tube Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of right fallopian tube (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital insensitivity to pain, anosmia, neuropathic arthropathy Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Abnormality of cervix uteri affecting pregnancy (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Repair of atrioventricular septal defect with common valve orifice Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Repair of atrioventricular septal defect with common valve orifice Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Patching of defect of atrioventricular valve leaflet Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Triopia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Triopia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Triopia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Inverse Klippel Trénaunay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Inverse Klippel Trénaunay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital anomaly of left renal vein (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of right renal vein (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of renal vein (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ehlers-Danlos syndrome classic type 2 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of blood vessels of bilateral lower limbs (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Bilateral congenital anomaly of blood vessels of upper limbs Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital anomaly of blood vessels of upper limbs Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of bilateral renal veins (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of bilateral renal veins (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital anomaly of ossicle of right ear Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of ossicle of left ear Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of ossicles of bilateral ears (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital anomaly of ossicles of bilateral ears (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Acquired abnormality of uterus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital deformity of bilateral calcanea (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital deformity of bilateral calcanea (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2

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